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1
SYSTEM AND METHOD FOR PROCESSING PARENTERAL FLUID
von
MCDONOUGH, DAVID P
,
BLAZO, DAVID R
,
GRAHAM, PETER L
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FILTER FOR USE WITH A DENTAL INSTRUMENT
von
BORTON, NOEL, T
,
BLAZO, DAVID, R
,
SUTTER, MARK, A
,
GILSON, TIMOTHY, J
,
GELMAN, CHARLES, E
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FILTER FOR USE WITH A DENTAL INSTRUMENT
von
BORTON, NOEL, T
,
BLAZO, DAVID, R
,
SUTTER, MARK, A
,
GILSON, TIMOTHY, J
,
GELMAN, CHARLES, E
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FILTER FOR USE WITH A DENTAL INSTRUMENT
von
GILSON, TIMOTHY J
,
BORTON, NOEL T
,
SUTTER, MARK A
,
BLAZO, DAVID R
,
GELMAN, CHARLES E
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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
von
Palmer, Elizabeth E.
,
Pusch, Michael
,
Picollo, Alessandra
,
Forwood, Caitlin
,
Nguyen, Matthew H.
,
Suckow, Vanessa
,
Gibbons, Jessica
,
Hoff, Alva
,
Sigfrid, Lisa
,
Megarbane, Andre
,
Nizon, Mathilde
,
Cogné, Benjamin
,
Beneteau, Claire
,
Alkuraya, Fowzan S.
,
Chedrawi, Aziza
,
Hashem, Mais O.
,
Stamberger, Hannah
,
Weckhuysen, Sarah
,
Vanlander, Arnaud
,
Ceulemans, Berten
,
Rajagopalan, Sulekha
,
Nunn, Kenneth
,
Arpin, Stéphanie
,
Raynaud, Martine
,
Motter, Constance S.
,
Ward-Melver, Catherine
,
Janssens, Katrien
,
Meuwissen, Marije
,
Beysen, Diane
,
Dikow, Nicola
,
Grimmel, Mona
,
Haack, Tobias B.
,
Clement, Emma
,
McTague, Amy
,
Hunt, David
,
Townshend, Sharron
,
Ward, Michelle
,
Richards, Linda J.
,
Simons, Cas
,
Costain, Gregory
,
Dupuis, Lucie
,
Mendoza-Londono, Roberto
,
Dudding-Byth, Tracy
,
Boyle, Jackie
,
Saunders, Carol
,
Fleming, Emily
,
El Chehadeh, Salima
,
Spitz, Marie-Aude
,
Piton, Amelie
,
Gerard, Bénédicte
,
Abi Warde, Marie-Thérèse
,
Rea, Gillian
,
McKenna, Caoimhe
,
Douzgou, Sofia
,
Banka, Siddharth
,
Akman, Cigdem
,
Bain, Jennifer M.
,
Sands, Tristan T.
,
Wilson, Golder N.
,
Silvertooth, Erin J.
,
Miller, Lauren
,
Lederer, Damien
,
Sachdev, Rani
,
Macintosh, Rebecca
,
Monestier, Olivier
,
Karadurmus, Deniz
,
Collins, Felicity
,
Carter, Melissa
,
Rohena, Luis
,
Willemsen, Marjolein H.
,
Ockeloen, Charlotte W.
,
Pfundt, Rolph
,
Kroft, Sanne D.
,
Field, Michael
,
Laranjeira, Francisco E. R.
,
Fortuna, Ana M.
,
Soares, Ana R.
,
Michaud, Vincent
,
Naudion, Sophie
,
Golla, Sailaja
,
Weaver, David D.
,
Bird, Lynne M.
,
Friedman, Jennifer
,
Clowes, Virginia
,
Joss, Shelagh
,
Pölsler, Laura
,
Campeau, Philippe M.
,
Blazo, Maria
,
Bijlsma, Emilia K.
,
Rosenfeld, Jill A.
,
Beetz, Christian
,
Powis, Zöe
,
McWalter, Kirsty
,
Brandt, Tracy
,
Torti, Erin
,
Mathot, Mikaël
,
Mohammad, Shekeeb S.
,
Armstrong, Ruth
,
Kalscheuer, Vera M.
Veröffentlicht in
Molecular psychiatry
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
von
Berg, Jonathan S
,
Brunetti-Pierri, Nicola
,
Peters, Sarika U
,
Kang, Sung-Hae L
,
Fong, Chin-to
,
Salamone, Jessica
,
Freedenberg, Debra
,
Hannig, Vickie L
,
Prock, Lisa Albers
,
Miller, David T
,
Raffalli, Peter
,
Harris, David J
,
Erickson, Robert P
,
Cunniff, Christopher
,
Clark, Gary D
,
Blazo, Maria A
,
Peiffer, Daniel A
,
Gunderson, Kevin L
,
Sahoo, Trilochan
,
Patel, Ankita
,
Lupski, James R
,
Beaudet, Arthur L
,
Cheung, Sau Wai
Veröffentlicht in
Genetics in medicine
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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
von
Palmer, Elizabeth E
,
Pusch, Michael
,
Picollo, Alessandra
,
Forwood, Caitlin
,
Nguyen, Matthew H
,
Suckow, Vanessa
,
Gibbons, Jessica
,
Hoff, Alva
,
Sigfrid, Lisa
,
Megarbane, Andre
,
Nizon, Mathilde
,
Cogne, Benjamin
,
Beneteau, Claire
,
Alkuraya, Fowzan S
,
Chedrawi, Aziza
,
Hashem, Mais O
,
Stamberger, Hannah
,
Weckhuysen, Sarah
,
Vanlander, Arnaud
,
Ceulemans, Berten
,
Rajagopalan, Sulekha
,
Nunn, Kenneth
,
Arpin, Stephanie
,
Raynaud, Martine
,
Motter, Constance S
,
Ward-Melver, Catherine
,
Janssens, Katrien
,
Meuwissen, Marije
,
Beysen, Diane
,
Dikow, Nicola
,
Grimmel, Mona
,
Haack, Tobias B
,
Clement, Emma
,
McTague, Amy
,
Hunt, David
,
Townshend, Sharron
,
Ward, Michelle
,
Richards, Linda J
,
Simons, Cas
,
Costain, Gregory
,
Dupuis, Lucie
,
Mendoza-Londono, Roberto
,
Dudding-Byth, Tracy
,
Boyle, Jackie
,
Saunders, Carol
,
Fleming, Emily
,
El Chehadeh, Salima
,
Spitz, Marie-Aude
,
Piton, Amelie
,
Gerard, Benedicte
,
Warde, Marie-Therese Abi
,
Rea, Gillian
,
McKenna, Caoimhe
,
Douzgou, Sofia
,
Banka, Siddharth
,
Akman, Cigdem
,
Bain, Jennifer M
,
Sands, Tristan T
,
Wilson, Golder N
,
Silvertooth, Erin J
,
Miller, Lauren
,
Lederer, Damien
,
Sachdev, Rani
,
Macintosh, Rebecca
,
Monestier, Olivier
,
Karadurmus, Deniz
,
Collins, Felicity
,
Carter, Melissa
,
Rohena, Luis
,
Willemsen, Marjolein H
,
Ockeloen, Charlotte W
,
Pfundt, Rolph
,
Kroft, Sanne D
,
Field, Michael
,
Laranjeira, Francisco E. R
,
Fortuna, Ana M
,
Soares, Ana R
,
Michaud, Vincent
,
Naudion, Sophie
,
Golla, Sailaja
,
Weaver, David D
,
Bird, Lynne M
,
Friedman, Jennifer
,
Clowes, Virginia
,
Joss, Shelagh
,
Polsler, Laura
,
Campeau, Philippe M
,
Blazo, Maria
,
Bijlsma, Emilia K
,
Rosenfeld, Jill A
,
Beetz, Christian
,
Powis, Zoe
,
McWalter, Kirsty
,
Brandt, Tracy
,
Torti, Erin
,
Mathot, Mikael
,
Mohammad, Shekeeb S
,
Armstrong, Ruth
,
Kalscheuer, Vera M
Volltext
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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
von
Koczkowska, Magdalena
,
Callens, Tom
,
Gomes, Alicia
,
Sharp, Angela
,
Chen, Yunjia
,
Hicks, Alesha D
,
Aylsworth, Arthur S
,
Azizi, Amedeo A
,
Basel, Donald G
,
Bellus, Gary
,
Bird, Lynne M
,
Blazo, Maria A
,
Burke, Leah W
,
Cannon, Ashley
,
Collins, Felicity
,
DeFilippo, Colette
,
Denayer, Ellen
,
Digilio, Maria C
,
Dills, Shelley K
,
Dosa, Laura
,
Greenwood, Robert S
,
Griffis, Cristin
,
Gupta, Punita
,
Hachen, Rachel K
,
Hernandez-Chico, Concepcion
,
Janssens, Sandra
,
Jones, Kristi J
,
Jordan, Justin T
,
Kannu, Peter
,
Korf, Bruce R
,
Lewis, Andrea M
,
Listernick, Robert H
,
Lonardo, Fortunato
,
Mahoney, Maurice J
,
Ojeda, Mayra Martinez
,
McDonald, Marie T
,
McDougall, Carey
,
Mendelsohn, Nancy
,
Miller, David T
,
Mori, Mari
,
Oostenbrink, Rianne
,
Perreault, Sebastian
,
Pierpont, Mary Ella
,
Piscopo, Carmelo
,
Pond, Dinel A
,
Randolph, Linda M
,
Rauen, Katherine A
,
Rednam, Surya
,
Rutledge, S. Lane
,
Saletti, Veronica
,
Schaefer, G. Bradley
,
Schorry, Elizabeth K
,
Scott, Daryl A
,
Shugar, Andrea
,
Siqveland, Elizabeth
,
Starr, Lois J
,
Syed, Ashraf
,
Trapane, Pamela L
,
Ullrich, Nicole J
,
Wakefield, Emily G
,
Walsh, Laurence E
,
Wangler, Michael F
,
Zackai, Elaine
,
Claes, Kathleen B.M
,
Wimmer, Katharina
,
van Minkelen, Rick
,
De Luca, Alessandro
,
Martin, Yolanda
,
Legius, Eric
,
Messiaen, Ludwine M
Veröffentlicht in
GENETICS IN MEDICINE
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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation
von
Koczkowska, Magdalena
,
Callens, Tom
,
Gomes, Alicia
,
Sharp, Angela
,
Chen, Yunjia
,
Hicks, Alesha D
,
Aylsworth, Arthur S
,
Azizi, Amedeo A
,
Basel, Donald G
,
Bellus, Gary
,
Bird, Lynne M
,
Blazo, Maria A
,
Burke, Leah W
,
Cannon, Ashley
,
Collins, Felicity
,
DeFilippo, Colette
,
Denayer, Ellen
,
Digilio, Maria C
,
Dills, Shelley K
,
Dosa, Laura
,
Greenwood, Robert S
,
Griffis, Cristin
,
Gupta, Punita
,
Hachen, Rachel K
,
Hernández-Chico, Concepción
,
Janssens, Sandra
,
Jones, Kristi J
,
Jordan, Justin T
,
Kannu, Peter
,
Korf, Bruce R
,
Lewis, Andrea M
,
Listernick, Robert H
,
Lonardo, Fortunato
,
Mahoney, Maurice J
,
Ojeda, Mayra Martinez
,
McDonald, Marie T
,
McDougall, Carey
,
Mendelsohn, Nancy
,
Miller, David T
,
Mori, Mari
,
Oostenbrink, Rianne
,
Perreault, Sebastién
,
Pierpont, Mary Ella
,
Piscopo, Carmelo
,
Pond, Dinel A
,
Randolph, Linda M
,
Rauen, Katherine A
,
Rednam, Surya
,
Rutledge, S Lane
,
Saletti, Veronica
,
Schaefer, G Bradley
,
Schorry, Elizabeth K
,
Scott, Daryl A
,
Shugar, Andrea
,
Siqveland, Elizabeth
,
Starr, Lois J
,
Syed, Ashraf
,
Trapane, Pamela L
,
Ullrich, Nicole J
,
Wakefield, Emily G
,
Walsh, Laurence E
,
Wangler, Michael F
,
Zackai, Elaine
,
Claes, Kathleen
,
Wimmer, Katharina
,
van Minkelen, Rick
,
De Luca, Alessandro
,
Martin, Yolanda
,
Legius, Eric
,
Messiaen, Ludwine M
Volltext
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10
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
von
Palmer, Elizabeth E
,
Pusch, Michael
,
Picollo, Alessandra
,
Forwood, Caitlin
,
Nguyen, Matthew H
,
Suckow, Vanessa
,
Gibbons, Jessica
,
Hoff, Alva
,
Sigfrid, Lisa
,
Megarbane, Andre
,
Nizon, Mathilde
,
Cogné, Benjamin
,
Beneteau, Claire
,
Alkuraya, Fowzan S
,
Chedrawi, Aziza
,
Hashem, Mais O
,
Stamberger, Hannah
,
Weckhuysen, Sarah
,
Vanlander, Arnaud
,
Ceulemans, Berten
,
Rajagopalan, Sulekha
,
Nunn, Kenneth
,
Arpin, Stéphanie
,
Raynaud, Martine
,
Motter, Constance S
,
Ward-Melver, Catherine
,
Janssens, Katrien
,
Meuwissen, Marije
,
Beysen, Diane
,
Dikow, Nicola
,
Grimmel, Mona
,
Haack, Tobias B
,
Clement, Emma
,
McTague, Amy
,
Hunt, David
,
Townshend, Sharron
,
Ward, Michelle
,
Richards, Linda J
,
Simons, Cas
,
Costain, Gregory
,
Dupuis, Lucie
,
Mendoza-Londono, Roberto
,
Dudding-Byth, Tracy
,
Boyle, Jackie
,
Saunders, Carol
,
Fleming, Emily
,
El Chehadeh, Salima
,
Spitz, Marie-Aude
,
Piton, Amelie
,
Gerard, Bénédicte
,
Abi Warde, Marie-Thérèse
,
Rea, Gillian
,
McKenna, Caoimhe
,
Douzgou, Sofia
,
Banka, Siddharth
,
Akman, Cigdem
,
Bain, Jennifer M
,
Sands, Tristan T
,
Wilson, Golder N
,
Silvertooth, Erin J
,
Miller, Lauren
,
Lederer, Damien
,
Sachdev, Rani
,
Macintosh, Rebecca
,
Monestier, Olivier
,
Karadurmus, Deniz
,
Collins, Felicity
,
Carter, Melissa
,
Rohena, Luis
,
Willemsen, Marjolein H
,
Ockeloen, Charlotte W
,
Pfundt, Rolph
,
Kroft, Sanne D
,
Field, Michael
,
Laranjeira, Francisco ER
,
Fortuna, Ana M
,
Soares, Ana R
,
Michaud, Vincent
,
Naudion, Sophie
,
Golla, Sailaja
,
Weaver, David D
,
Bird, Lynne M
,
Friedman, Jennifer
,
Clowes, Virginia
,
Joss, Shelagh
,
Pölsler, Laura
,
Campeau, Philippe M
,
Blazo, Maria
,
Bijlsma, Emilia K
,
Rosenfeld, Jill A
,
Beetz, Christian
,
Powis, Zöe
,
McWalter, Kirsty
,
Brandt, Tracy
,
Torti, Erin
,
Mathot, Mikaël
,
Mohammad, Shekeeb S
,
Armstrong, Ruth
,
Kalscheuer, Vera M
Volltext bestellen
Artikel
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11
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation (vol 21, pg 764, 2019)
von
Koczkowska, Magdalena
,
Callens, Tom
,
Gomes, Alicia
,
Sharp, Angela
,
Chen, Yunjia
,
Hicks, Alesha D
,
Aylsworth, Arthur S
,
Azizi, Amedeo A
,
Basel, Donald G
,
Bellus, Gary
,
Bird, Lynne M
,
Blazo, Maria A
,
Burke, Leah W
,
Cannon, Ashley
,
Collins, Felicity
,
DeFilippo, Colette
,
Denayer, Ellen
,
Digilio, Maria C
,
Dills, Shelley K
,
Dosa, Laura
,
Greenwood, Robert S
,
Griffis, Cristin
,
Gupta, Punita
,
Hachen, Rachel K
,
Hernandez-Chico, Concepcion
,
Janssens, Sandra
,
Jones, Kristi J
,
Jordan, Justin T
,
Kannu, Peter
,
Korf, Bruce R
,
Lewis, Andrea M
,
Listernick, Robert H
,
Lonardo, Fortunato
,
Mahoney, Maurice J
,
Ojeda, Mayra Martinez
,
McDonald, Marie T
,
McDougall, Carey
,
Mendelsohn, Nancy
,
Miller, David T
,
Mori, Mari
,
Oostenbrink, Rianne
,
Perreault, Sebastien
,
Pierpont, Mary Ella
,
Piscopo, Carmelo
,
Pond, Dinel A
,
Randolph, Linda M
,
Rauen, Katherine A
,
Rednam, Surya
,
Rutledge, S. Lane
,
Saletti, Veronica
,
Schaefer, G. Bradley
,
Schorry, Elizabeth K
,
Scott, Daryl A
,
Shugar, Andrea
,
Siqveland, Elizabeth
,
Starr, Lois J
,
Syed, Ashraf
,
Trapane, Pamela L
,
Ullrich, Nicole J
,
Wakefield, Emily G
,
Walsh, Laurence E
,
Wangler, Michael F
,
Zackai, Elaine
,
Claes, Kathleen B.M
,
Wimmer, Katharina
,
van Minkelen, Rick
,
De Luca, Alessandro
,
Martin, Yolanda
,
Legius, Eric
,
Messiaen, Ludwine M
Veröffentlicht in
GENETICS IN MEDICINE
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